Tuesday, October 17, 2017

Mice Provide Insight into Genetics of Autism Spectrum Disorders



Studies done on the brains of mice showed a direct link to autism spectrum disorder.  More specifically, a mutation on the CHD8 gene in the cortex of mice brains lead to an increased size of the brain (megalencephaly).  This condition was also present in people with autism spectrum disorder. Research lead by Alex Nord, assistant professor of neurobiology, physiology, and behavior with the Center for Neuroscience at the University of California, performed studies to show the link between genetics and autism spectrum disorder (ASD).  The Nord laboratory strived to show how the "genome of the brain encodes brain development and function."  People with autism spectrum disorder have been shown a mutated gene called the CHD8 gene in their brain.  This gene encodes for protein that is responsible for packaging DNA into the cells.  If the packaging of DNA is altered, it can lead to disorders because it ultimately controls when genes are turned on and off during development.  And so, if the CHD8 gene is mutated it may not tell the proper genes to turn on and off during development, leading to disorders.  However, with the help of studies done on mice brains the genetic link to ASD is becoming more clear.  These studies done on mice were classified as behavioral tests.  Nord and his researchers induced mutation in mice on the CHD8 gene and noticed that they experienced cognitive impairment and increased brain size (megalencephaly).  After analyzing this data, the researchers found that the expression of the CHD8 gene peaks during the early stages of brain development, which in turn lead to an excess of dividing cells during development as well.  Nord also noticed that the changes in gene expression continued throughout the mice's lifetime, suggesting that the CHD8 gene plays a role in biological processes throughout the mice's entire life.  The research done by Nord and his fellow researchers at The Nord Laboratory provides evidence for the genetic link of the CHD8 gene and autism spectrum disorder.  

This picture is of the cortex in the brains of mice; the colored areas represent different layers of the developing cortex. 
I found the study described in this article very interesting.  I have heard of autism spectrum disorder in the past and have encountered individuals with this disorder, however I was not entirely certain on the cause of this disorder.  After reading this article, I was intrigued.  It was interesting to learn that a single mutated gene caused such a spiraling effect in the mice, which then showed a parallel in humans with ASD.  I do believe this was a pivotal start to discovering an effective treatment to autism spectrum disorder.  


Monday, October 16, 2017

Gene Drive, The Most Powerful and Alarming New Tool In the Science World Today

There is recent study on the extension of CRISPR with a system called gene drive, that uses CRISPR as a stepping stone. CRISPR gene drive is one of the most powerful and alarming new tool in the science world today. Some researchers though of what if CRISPR inserted not only on the new gene but also a machinery that does the cutting and pasting. In other words, CRISPR also copied and pasted itself. The result will be a perpetual motion machine for gene editing.  CRISPR gene drive created by a scientist name Esvelt, which guarantees that a trait will get passed on, but if it is used in the germline cells, it will automatically copy and paste the new gene into both chromosomes of every single individual. It is like a global search and replace, or in science terms, it makes a heterozygous trait homozygous instead. 
There is a research using the gene drive to create mosquitoes carrying anti-malaria gene. The result given, the Mendelian genetics says when a male and a female mate, their baby inherits half of its DNA from each parent. As a result, if the original mosquito was aa and the new mosquito is aB, where B is the anti-malarial gene, the babies should come out in four permutations: aa, aB, aa, Ba. Instead, with the new gene drive, they all came out aB. Biologically, that should not even be possible. However, CRISPR gene drive make it completely possible for any researchers to achieve this miracle. 
Personally, this new tool is pretty alarming. CRISPR is fascinating enough, but with new add-on feature, an entire population's genome can be change very rapidly, especially with a fast reproductive cycle that the mosquitoes have. This can lead to an earlier evolution than just solely depend on mutation slowly introduce to a population or any other effects on the population.

Sunday, October 15, 2017

It's Not a Phase Mom, It's Genetic Testing but Cooler

There is a lot of ways to start this post, but the only way that comes to my mind at this moment is: "really?"  I know everyone loves technology and finding more information about themselves and buying things because "everyone else did," but at some point there is a line and I think we might have found it.  I understand the appeal of getting genetic information at your fingertips with a few month's delay but the fact is, what really is someone going to do with this information?  There has been diseases or genetic alleles found through these testings, but research has shown that these genetic tests don't go as in depth as they should.  There has been reports that results have caused customers to be overly stressed about their health only to find out from a doctor that the alleles that were detected were not dangerous at all.  In addition, most people are unaware of how these tests are being done, let alone how accurate it is.  When these companies started out, they created a database of genes and all the different alleles through their customers and testing groups.  When customers send in their DNA sample, their genes are compared to the people in that database.  While the databases being developed by these companies are continuously growing and advancing, it is still a very low percentage of the entire human population.  Because of this, there is an apparent sampling error in these companies, causing the results to not be as accurate as the companies have made it out to be.  The FDA has even developed the slogan "think before you spit" to warn customers of the accuracy and the benefits they believe the companies will give them.  Right now, the most accurate results someone will be able to get is through doctors who are specialized in genetics.  
Consumer-based genetic testing is what it is: a manipulation of the consumer to buy.  The fact is, most of the information the customers are getting back, they won't even know what to do with.  As a professor from Stockton University has said, we are in a data crisis.  We have developed so many different and new ways to gain more information than we could ever imagine, but we don't even know how to organize or implement it into something meaningful.  All these people buying these tests off of the shelf at their local Target for about $100 a pop probably will not be able to efficiently use the results they're given back.  Sure, a few Tweets and Facebook posts about how they thought they were 100% Italian but then they found out they were 0.00009% French is cool, but then what?

Friday, October 13, 2017

U.S edits Embryo DNA for first time

 
In vitro fertilization, computer artwork. (Getty Images)





     Without a doubt, I found this article very interesting. Scientist have successfully edited embryos so that they could grow and develop if placed into a mother's womb. This is the first time this is happening in the U.S. The gene altering technology is referred to as CRISPR. By injecting CRISPR into the embryo about the same time that is it getting fertilized by the sperm it reduces the risk of "off target editing"(Newman). This is extremely valuable in the world of medicine. It will help correct genes that are dangerous to future generations. They could also eventually alter inherited diseases to help those. Although these are all positive factors, I do believe this technology should be evaluated to fit culture appropriation.
    Personally, I think its great to see technology improving, specifically in genetics. When thinking of this article the idea of "Designer babies" popped in my head. People may want to pay to have their embryos genes altered making the baby ideal phenotypically. Many will argue that this is morally wrong and should only be used for medical needs.  I think it may become a main focus causing a nationwide debate when the technology improves more.

Article: https://www.usnews.com/news/national-news/articles/2017-07-27/scientists-edit-the-dna-of-embryos-for-first-time-in-united-states

Thursday, October 12, 2017

Monkeys with Parkinson's disease benefit from human stem cells





A article on science daily was published regarding how monkeys with Parkinson's disease are benefiting from human stem cells.
Parkinson's disease degenerates cells in the brain known as dopaminergic (DA) neurons. When the symptoms of Parkinson's are found, it most likely appears that more than half of the DA neurons are lost in the brain of the individual. Neurosurgeons are planning on using DA neurons created from iPS cells to treat these patients with the disease. iPS cells are made from blood and skin cells which makes them easily obtainable. This idea is being tested for its safety and reliability, so they are trying the experiment on monkeys that have Parkinson's by transplanting the new cells in the monkeys brains.

I believe this could be a remarkable and cheap breakthrough if it works. Scientists were usually using fetal tissue to create DA neurons . Studies mentioned on how the transplant of these cells aid and help relieve symptoms of the disease. But using fetal tissues in general is a controversial topic. The use of iPS cells can help substitute the use of fetal tissue to treat patients.


https://www.sciencedaily.com/releases/2017/08/170830132224.htm

http://www.nature.com/nature/journal/v548/n7669/full/nature23664.html?foxtrotcallback=true

Wednesday, October 11, 2017

Neandertal genome reveals similarities in the living

Neandertal genome reveals similarities in the living



A recent discovery of bone fragment from Vindija Cave in Croatia led to more links between this extinct hominid species and modern day humans. Scientists were able to take a remarkably complete sequence the of genome from this 50,000-year-old bone fragment. From the data, they were able to see a new mass of gene variants that modern day humans outside of Africa would have derived from Neandertals. Some of this DNA could influence cholesterol levels, accumulation of belly fat, and the risk of schizophrenia, depression and other diseases. Neandertal genomes have very little genetic variation among different locations that they have been found and analyzed. This small population had traits that were different from homo sapiens. They had small populations and a limited ability to survive diseases, starvation, or changes in climate, but there were some that were able to provide more genetic variation to populations that were just beginning to grow.  In recent studies it has been discovered that nearly 2.3%-2.6% of Neandertal DNA is in East Asians, while 1.8%-2.4% are in western asia and Europe.
This is interesting because many people would like to see themselves as far removed from the people they call cavemen; however, quite oppositely, a portion of diseases and someones ability to prevent them can be traced back to DNA derived from small populations of Neandertal. It is interesting that even with the small number of genomes actually sequenced, that there is a striking amount of similarities in certain areas.

Source: Gibbons, Ann (2017 October 6) Neandertal genome reveals greater legacy in living. Science

Monday, October 9, 2017




          Researchers from Switzerland has done a study on TORC1, which is an enzyme that controls the normal cell growth in the body. When this enzyme is too active it causes diseases such as cancer. The Target Of Rapamycin (TOR) was first discovered in yeast, and then in humans. TOR is found in two very different proteins, TORC1 and TORC2. Researchers from UNIGE, the University of Auckland, New Zealand, and the École Polytechnique Fédérale de Lausanne (EPFL) collaborated to understand how the nutrient regulates the activity of TROC1. The researchers were able to reveal the appearance of a new TORC1 structure in cells. When the cells lack glucose, the TORC1 assemble together forming a tubular structure. The tubular structure which is the TOROID, stores inactive TORC1 and stops cell growth. Another study done by National Centre of Competence in Research (NCCR) showed that the re-addition of glucose causes the TORIDS or the tubular structure to rapidly dissemble. NCCR has done the testing in yeast. The assembly and disassembly of the TOROIDS will make it possible to search for compounds that can stabilize and destabilize the cells. This article was very interesting to me  because it could lead to curing cancer. If the cancer cells could be stopped from growing, millions of lives would be saved. Its amazing to see how modern technology can change cells from being able to grow. This research could open up new approaches to treat many diseases and change the world for ever. 

Smart Protein Molecule






To begin, I chose this article because it makes me happy that we are close to the idea that we are extremely near finding the cure to cancer. Researchers specifically, bioengineering professors at the University of California have created a "smart" protein that is able to tell white blood cells to become better cancer fighters. What the protein actually does is that it tells cells to ignore self destructing signals. Cancer cells use the mechanism in that they make the cells attack and self destruct, spreading to more of the body. They have called this smart molecule protein "iSnap." They have inserted into a macrophage which is a white blood cell. They then discovered that it made the cells react and engulf and divide cancer cells.


Personally, I really enjoyed this article because I love to hear when medicine is advancing with technology.  Perfecting this new finding will most definitely lead to immune cells being able to fight cancer cells leading to a cure to cancer. Realistically, this mechanism will also be able to fight diseases which will help the medicine field. The study was also done on rapidly dividing cancer cells and its success foreshadows a cure to even the toughest of cancers.



Reference: University of California - San Diego. (2017, September 28). Smart molecules trigger white blood cells to become better cancer-eating machines. ScienceDaily. Retrieved October 9, 2017 from www.sciencedaily.com/releases/2017/09/170928142121.htm
Picture : https://fthmb.tqn.com/5ry863qfeVyF7xsdP1u66r1muo4=/768x0/filters:no_upscale()/h20-58e655f93df78c5162ea0a1f.jpg